Variant report

Variant	rs12743370
Chromosome Location	chr1:95550243-95550244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95549239..95551783-chr1:95557722..95560296,2	K562	blood:
2	chr1:95544414..95547978-chr1:95549348..95553409,4	K562	blood:
3	chr1:95549935..95550783-chr1:95583898..95584460,2	K562	blood:
4	chr1:95538304..95542687-chr1:95547314..95551412,4	K562	blood:
5	chr1:95548633..95550280-chr1:95551848..95554407,2	K562	blood:
6	chr1:95549452..95551789-chr1:95607274..95610071,2	K562	blood:
7	chr1:95548534..95550560-chr1:95561242..95563243,2	K562	blood:
8	chr1:95537906..95540318-chr1:95548748..95550282,2	MCF-7	breast:
9	chr1:95543478..95545914-chr1:95548996..95550848,2	K562	blood:
10	chr1:95545358..95548450-chr1:95548611..95551467,3	MCF-7	breast:
11	chr1:95549951..95550846-chr1:95698568..95700190,5	MCF-7	breast:
12	chr1:95550043..95550850-chr1:95699297..95700105,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172339	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000122481	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10127516	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874903	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562498	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563154	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12717801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724815	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890845	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4309031	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4314930	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335417	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4556411	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4623755	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593670	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6690421	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541757	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546710	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9437816	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95546400-95550600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:95546600-95550400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:95546600-95552000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:95546800-95550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:95546800-95550400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:95546800-95550600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:95549000-95551200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:95549200-95550400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:95549200-95552400	Enhancers	A549	lung
10	chr1:95549200-95554200	Enhancers	Fetal Heart	heart
11	chr1:95549400-95550800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr1:95549600-95552600	Enhancers	HepG2	liver
13	chr1:95549800-95550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:95549800-95551200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:95549800-95551200	Enhancers	Psoas Muscle	Psoas
16	chr1:95549800-95552000	Flanking Active TSS	K562	blood
17	chr1:95549800-95553000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:95550000-95550400	Enhancers	Left Ventricle	heart
19	chr1:95550000-95550400	Enhancers	HUVEC	blood vessel
20	chr1:95550000-95550400	Enhancers	NHLF	lung
21	chr1:95550000-95550600	Enhancers	Brain Anterior Caudate	brain
22	chr1:95550000-95550600	Enhancers	NHDF-Ad	bronchial
23	chr1:95550000-95550600	Enhancers	Osteobl	bone
24	chr1:95550000-95550800	Enhancers	Liver	Liver
25	chr1:95550000-95551800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:95550000-95553000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:95550200-95550400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:95550200-95550400	Enhancers	Fetal Intestine Small	intestine
29	chr1:95550200-95550600	Enhancers	Stomach Mucosa	stomach
30	chr1:95550200-95551600	Weak transcription	Adipose Nuclei	Adipose
31	chr1:95550200-95552000	Weak transcription	HSMMtube	muscle
32	chr1:95550200-95552200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:95550200-95552400	Weak transcription	HSMM	muscle
34	chr1:95550200-95552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:95550200-95552600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:95550200-95552600	Weak transcription	Fetal Lung	lung

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